VWC2 P148L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

VWC2 P148L

(VWC2 Pro148Leu)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr7:49815474: 3.2% (337/10536) in EVS
  • T @ chr7:49786019: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (337/10536)

Publications
 

Genomes
 

 

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr7:49786020

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr7:49786020

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr7:49786020

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr7:49786020

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr7:49786020

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr7:49786020

 

NA19240

 

Other external references
 

    dbSNP
  • rs73347631
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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